Abstract— <p>Hereditary diseases originate from pathogenic changes in genetic material. For a monogenic disease to develop, a single pathogenic mutation in a certain gene is both necessary and sufficient. Determining the specific genetic change causing a disease in a patient is a crucial aspect of modern medical genetic counseling. It enables to determine the possibilities of patient care, the risks of a disease recurring in a family, as well as to plan preconception care and prenatal diagnostics, and is also the basis for the appointment or development of pathogenetic/etiotropic therapy. Today, geneticists have a vast array of tools at their disposal when studying nucleic acids, including polymerase chain reaction and its modifications, quantitative analysis methods, various types of reading the nucleotide sequence (sequencing) from a specific gene to the entire genome.</p>